L1-3 cancer genetics cards

Cancer

Uncontrolled growth/proliferation of abnormal cells.

Somatic mutations

Mutations occurring in non-germline tissues that cannot be inherited.

Tumor suppressor genes

Genes that normally function to prevent excessive cell growth; their mutations lead to cancer.

Two-hit hypothesis

The theory that two mutations are generally required in tumor suppressor genes for cancer development.

Next Generation Sequencing (NGS)

A method for rapidly sequencing DNA, allowing for detection of somatic mutations in cancer.

Driver mutations

Mutations that provide a growth advantage to cancer cells and are selected for during cancer evolution.

Passenger mutations

Mutations that occur in cancer cells but do not contribute to cancer progression.

Viral Oncogenes

Genes that can cause cancer in cells when carried by certain viruses, such as the papillomavirus.

Chromosomal Instability

A common feature of cancer cells characterized by an increased frequency of chromosomal aberrations.

Germline Mutations

Inherited mutations that are present in the egg or sperm and passed to offspring; results in every cell of the offspring carrying the mutation.

Somatic Mutations

Mutations acquired during a person’s life after fertilization; not inherited and typically found in specific tissues.

Sporadic Cancer

Cancers that arise from mutations that are not inherited and occur irregularly among the population.

Tumor Suppressor Genes

Genes that regulate cell growth and division; require two mutations (one in each allele) to lose their function and contribute to cancer.

Point Mutation

A change in a single nucleotide in the DNA sequence, which can lead to changes in protein function.

Loss of Heterozygosity

A genetic event where one of the two alleles of a gene is lost, which can lead to cancer in the presence of a tumor suppressor gene mutation.

Haploinsufficiency

A situation where having only one functional copy of a gene is insufficient for normal function, often seen in certain tumor suppressor genes.

Retinoblastoma

A childhood eye cancer associated with mutations in the retinoblastoma gene, which follows an autosomal dominant inheritance pattern.

Gatekeeper Genes

Tumor suppressor genes that directly regulate cell cycle and growth; examples include retinoblastoma and p53.

Caretaker Genes

Genes that maintain genome integrity by repairing damage and preventing mutations; loss of these genes leads to increased mutation rates.

Multistep Model of Cancer

A model suggesting that cancer development involves multiple genetic mutations over time, rather than a single mutation causing cancer.

BRCA1 and BRCA2

Genes associated with increased risk of breast and ovarian cancer when mutated; important for DNA repair.

Oncogenes

Genes that promote cell growth and division, which can lead to cancer when mutated or overexpressed. mutations in these are often dominantly acting, requiring only one altered copy to trigger cancer. Think gas pedal stuck to the floor

Tumor Suppressor Genes

Genes that inhibit cell division and survival; mutations in these genes can result in uncontrolled cellular proliferation. Think break that doesn’t work

Selective Pressure

For cancer treatment, it refers to the application of therapies that eliminate certain cancer cells while allowing others to survive and potentially develop resistance.

Anaplasia

A condition of undifferentiated cells often seen in tumors, signifying a loss of normal cell features.

Angiogenesis

The formation of new blood vessels, which tumors stimulate to secure a blood supply for growth.

Intratumoral Heterogeneity

Variability in genetic and phenotypic characteristics within a single tumor mass, involving different cell subtypes and their unique genetic profiles. (eg. basal-like /luminal cells)

Targeted Therapy

Cancer treatments that specifically target molecular changes associated with cancer, aiming for precision treatment.

Microenvironment

The surrounding cellular environment that influences tumor behavior and growth, including interactions with immune and stromal cells.

Cytokines

Proteins secreted by cells that affect the behavior of other cells, significant in immune responses and the tumor microenvironment.

Genomic Instability

An increased tendency of the genome to acquire mutations, often contributing to cancer progression.

Chemotherapy

A type of cancer treatment that uses drugs to kill rapidly dividing cells, including cancer cells.

Immunotherapy

A treatment that leverages the body’s own immune system to fight cancer cells.

Cancer Stem Cells

A subpopulation of cancer cells with the ability to self-renew and drive tumor growth and recurrence.

EXtrinsic factors

External elements (e.g., growth factors, immune interactions, and the ECM) that drive cancer progression by assisting cell growth and evading apoptosis.